Variant report

Variant	rs72813958
Chromosome Location	chr2:58768556-58768557
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57174143	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60975403	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61140557	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62140821	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62140829	0.90[EUR][1000 genomes]
rs62140858	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62140859	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72813949	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755713	chr2:58653580-58782707	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1012213	chr2:58671881-58893730	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv535736	chr2:58671881-58893730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv874203	chr2:58696996-58820417	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58764200-58770000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:58766800-58768600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:58766800-58768800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:58766800-58768800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:58766800-58769000	Enhancers	Fetal Brain Male	brain
6	chr2:58767000-58768800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:58767000-58769000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:58767000-58769200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:58767200-58768800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:58767400-58768600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:58767400-58768800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:58767400-58768800	Enhancers	Brain Hippocampus Middle	brain
13	chr2:58767400-58769000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:58767400-58770200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:58767600-58768600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:58767600-58768600	Enhancers	A549	lung
17	chr2:58767600-58768800	Enhancers	Brain Anterior Caudate	brain
18	chr2:58767600-58771200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:58767800-58768800	Enhancers	NH-A	brain
20	chr2:58767800-58769000	Enhancers	Fetal Brain Female	brain
21	chr2:58768000-58768600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:58768000-58768800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:58768000-58768800	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:58768000-58771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:58768200-58768600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:58768200-58768800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:58768200-58769000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:58768200-58769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:58768200-58769400	Enhancers	Brain Germinal Matrix	brain
30	chr2:58768200-58770800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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